Canonical Allele Identifier: CA712283419

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1243801650
• MyVariant Identifiers: chr15:g.35088645A>G (hg19) ; chr15:g.34796444A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796444A>G , CM000677.2:g.34796444A>G	GRCh38
NC_000015.9:g.35088645A>G , CM000677.1:g.35088645A>G	GRCh37
NC_000015.8:g.32875937A>G	NCBI36
NG_007553.1:g.4283T>C , LRG_388:g.4283T>C

Transcript Alleles

HGVS	Amino-acid Change
NR_120329.1:n.300-14052A>G